Molecular Vision: Abidi, Mol Vis 2011; 17:3541-3547. Table 3

Table 3. Detection rate of RB1 germline mutations in patients with retinoblastoma reported from different countries

Population	Method(s) used	No. of patients	Phenotype	Global rate^a	% in F or SB^b	% in SU^c	% NS/FS mutations	% Splicing mutations	Reference
Japan	SSCP, DHPLC, FISH	51	11 FB 4 FU 16 SB 20 SU	39	61	5	70	15	[23]
Germany	SSCP, HDA, sequencing	71	B or F	72	72	ND	88	11	[24]
Spain, Colombia and Cuba	Sequencing, microsatellite markers	107	11 FB 4 FU 49 SB 43 SU	50	67	20.9	58	23	[25]
China	SSCP	42	14 SB 28 SU	19	50	3.6	63	37	[26]
Italy	SSCP, sequencing, real-time PCR	35	7 FB 2FU 13 SB 13 SU	37	59	0	62	31	[27]
New Zeland	Sequencing MLPA, FISH, bisulphite method	20	1FB 7SB 12 SU	50	100	17	60	30	[17]
Europe, North America, Asia	QM-PCR, Sequencing, AS-PCR	1020	421 B 27 FU 572 SU	49	94	14.6	ND	ND	[19]
Switzerland	DHPLC, Sequencing, STR markers	65	7 F 30 SB 28 SU	45	70	10.7	68	27	[8]
India	QM-PCR RFLP, FG, Sequencing	74	53 B 4FU 17 SU	66	84	6	28.5	12.3	[16]
France	DHPLC, QMPSF	192	102 B or F 90 SU	46	81.5	5.5	51	26	[14]
Mexico	SSCP-Sequencing	48	21 B 27 U	19	ND	ND	31	ND	[28]
Argentina	Sequencing	21	6 FB 7 SB 8 SU	24	80	12.5	80	0	[29]
North America	Sequencing, RT, QSBA, LOH	180	85 B 10 FU 85 SU	50	88	7	ND	ND	[30]
Spain	Sequencing, RT–PCR	43	43 SB or F	67	67	ND	69	31	[31]
Morocco	Sequencing	41	1FB 1 FU 23 SB 16 SU	24	40	0	90	10	This study

NS/FS: Nonsense/frameshift mutations; SSCP Single-strand conformational polymorphism; DHPLC denaturing high performance liquid chromatography; FISH fluorescent in situ hybridization; HDA: Heteroduplex Analysis; MLPA: multiplex ligation probe amplification; QM-PCR: Quantitative Multiplex-PCR; QMPSF: Quantitative Multiplex PCR of short fluorescent fragments; AS-PCR: Allele specific-PCR; FG: Fluorescent genotyping; QSBA: Quantitative Southern Blot Analysis; LOH: Loss Of Heterozygocity; S: sporadic; F: familial; U: unilateral; B: bilateral; ND: not determined ^aDetection rate of germline mutations in all patients with retinoblastoma ^bDetection rate of germline mutations in heritable cases (sporadic bilateral or familial cases). ^cDetection rate of germline mutations in sporadic unilateral cases.